Dr Alice Davidson at University College London is investigating the cause of Fuchs endothelial corneal dystropy (FECD) and testing for potential therapies. 

Fuchs endothelial corneal dystrophy (FECD), is characterised by corneal endothelial cell death, is a common, age-related, disease estimated to affect more than 4% of individuals over 40 years of age. A genetic mutation in a gene called TCF4 is the most common cause of FECD. The researchers have recently discovered that approximately 75% of FECD patients in the UK have a mutation in the TCF4 gene.

The cornea is the transparent tissue situated at the front of the eye. It protects the eye from the external environment and focuses light onto the retina. The innermost part of this tissue is comprised of a specialised layer of corneal endothelial cells. These cells perform a pump-like mechanism removing water from the outer layers of the cornea, which, if left to accumulate, causes corneal swelling and clouding leading to loss of vision and/or blindness.

Currently, the only treatment for FECD is invasive corneal transplantation surgery to restore vision and prevent blindness. This treatment relies upon specialist facilities and is dependent on the availability of healthy donor material, of which there is currently a global shortage. Graft rejection and the need for systemic immunosuppression in some individuals, coupled with the global ageing population, highlight the need for alternative and effective treatment strategies to be developed for FECD.

The aim of this study is to further understand the relationship between mutations in the TCF4 gene and FECD. The team will investigate the biological reasons for the disease, using a model system that we have developed using donated corneal endothelial cells removed from FECD patients as part of their planned surgery. This cell model will be used to test new therapies for FECD designed to target the common TCF4 mutation that causes disease.

Cutting-edge technology will be used to develop a genetic test for FECD that will have the potential to accurately identify pre-symptomatic individuals so that we have a window of opportunity to prevent and treat the condition before sight loss. The cell model of FECD will be used to enhance our understanding of the biological reasons for disease, and enable us to test potential therapies that could be rapidly translated into clinical trials for this sight threatening condition.

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